BDNF (GeneID: 627) | Homo sapiens
Description: brain derived neurotrophic factor [Source:HGNC Symbol;Acc:HGNC:1033]
Synonyms: ANON2, BULN2
Other ID(s): HGNC:1033, ENSG00000176697
Protein Accession Numbers: ENST00000395978, ENST00000438929.1, ENST00000533246, NP_001137284, NP_733930, ENST00000418212, ENST00000530861, NP_001137281, NP_733927, ENST00000395981, ENST00000525528, NP_001137278, NP_001137286, ENST00000356660, ENST00000438929, ENST00000533131, NP_001137283, NP_733929, ENST00000395986, ENST00000530786, NP_001137280, NP_001700, ENST00000395980, ENST00000439476, NP_001137277, NP_001137285, NP_733931, ENST00000314915, ENST00000420794, ENST00000532997, NP_001137282, NP_733928, ENST00000395983, ENST00000525950, NP_001137279, NP_001137288
Statistics: ClinVar(14) gnomAD(142) COSMIC(333) PTM(6)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000314915 You are here now! ENST00000356660 ENST00000395978 ENST00000395980 ENST00000395981 ENST00000395983 ENST00000395986 ENST00000418212 ENST00000420794 ENST00000438929 ENST00000439476 ENST00000525528 ENST00000525950 ENST00000530786 ENST00000530861 ENST00000532997 ENST00000533131 ENST00000533246 NP_001137277 NP_001137278 NP_001137279 NP_001137280 NP_001137281 NP_001137282 NP_001137283 NP_001137284


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00243 NGF Nerve growth factor family 133-246 CL0079 Cystine-knot Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alcoholic Intoxication Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Alcoholic Intoxication, Chronic Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.382 0.828
Anoxemia Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Anoxia Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Autistic Disorder Mental Disorders ; 0.382 0.828
Bipolar Disorder Mental Disorders ; 0.382 0.828
Depression, Bipolar Mental Disorders ; 0.382 0.828
Body Weight Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Brain Ischemia Nervous System Diseases ; Cardiovascular Diseases ; 0.382 0.828
Cocaine Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Prelingual Deafness Otorhinolaryngologic Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Deafness Otorhinolaryngologic Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.382 0.828
Mental Depression Behavior and Behavior Mechanisms ; 0.382 0.828
Endogenous depression Mental Disorders ; 0.382 0.828
Depressive disorder Mental Disorders ; 0.382 0.828
Epilepsy Nervous System Diseases ; 0.382 0.828
Tonic-Clonic Epilepsy Nervous System Diseases ; 0.382 0.828
Gliosis Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Heroin Dependence Chemically-Induced Disorders ; 0.382 0.828
Profound Mental Retardation Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.382 0.828
Inflammation Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Jacksonian Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.382 0.828
Manic Disorder Mental Disorders ; 0.382 0.828
Melancholia Mental Disorders ; 0.382 0.828
Mental Retardation, Psychosocial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.382 0.828
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.382 0.828
nervous system disorder Nervous System Diseases ; 0.382 0.828
Nicotine Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Obesity, Morbid Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Obsessive-Compulsive Disorder Mental Disorders ; 0.382 0.828
Parkinson Disease Nervous System Diseases ; 0.382 0.828
Psychosis, Brief Reactive Mental Disorders ; 0.382 0.828
Psychotic Disorders Mental Disorders ; 0.382 0.828
Schizoaffective Disorder Mental Disorders ; 0.382 0.828
Schizophrenia Mental Disorders ; 0.382 0.828
Schizophreniform Disorders Mental Disorders ; 0.382 0.828
Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.382 0.828
Substance Withdrawal Syndrome Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Tobacco Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Tobacco Use Disorder Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Unipolar Depression Mental Disorders ; 0.382 0.828
Injuries, Acute Brain Nervous System Diseases ; Wounds and Injuries ; 0.382 0.828
Alcohol abuse Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Depressive Syndrome Mental Disorders ; 0.382 0.828
Drug Withdrawal Symptoms Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Epilepsy, Cryptogenic Nervous System Diseases ; 0.382 0.828
Hearing Loss, Extreme Otorhinolaryngologic Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Withdrawal Symptoms Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Complex partial seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
WAGR Syndrome Neoplasms ; Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.382 0.828
Generalized seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Seizures, Clonic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Aura Nervous System Diseases ; 0.382 0.828
Amphetamine-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Cocaine-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Amphetamine Addiction Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Amphetamine Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Hypoxia Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Brain Injuries Nervous System Diseases ; Wounds and Injuries ; 0.382 0.828
Petit mal status Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Visual seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Tonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Epileptic drop attack Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Brain Lacerations Nervous System Diseases ; Wounds and Injuries ; 0.382 0.828
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.382 0.828
Depression, Neurotic Mental Disorders ; 0.382 0.828
Grand Mal Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Drug-induced depressive state N/A 0.382 0.828
Manic Mental Disorders ; 0.382 0.828
Nicotine Use Disorder Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Complex Partial Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Seizures, Somatosensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Seizures, Auditory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Olfactory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Gustatory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Vertiginous seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Brain Injuries, Focal Nervous System Diseases ; Wounds and Injuries ; 0.382 0.828
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.382 0.828
Tonic - clonic seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Mood Disorders Mental Disorders ; 0.382 0.828
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.382 0.828
Complete Hearing Loss Otorhinolaryngologic Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Cocaine Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.382 0.828
Hypoxemia Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.382 0.828
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.382 0.828
Non-epileptic convulsion Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Deafness, Acquired Otorhinolaryngologic Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Single Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Awakening Epilepsy Nervous System Diseases ; 0.382 0.828
Cryptogenic Tonic-Clonic Epilepsy Nervous System Diseases ; 0.382 0.828
Epilepsy, Tonic-Clonic, Familial Nervous System Diseases ; 0.382 0.828
Epilepsy, Tonic-Clonic, Symptomatic Nervous System Diseases ; 0.382 0.828
Atonic Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Convulsive Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Seizures, Focal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Seizures, Sensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Status Epilepticus, Subclinical Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Non-Convulsive Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Simple Partial Status Epilepticus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Cerebral Ischemia Nervous System Diseases ; Cardiovascular Diseases ; 0.382 0.828
Mental deficiency Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.382 0.828
Major Depressive Disorder Mental Disorders ; 0.382 0.828
Congenital central hypoventilation Respiratory Tract Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Autism Spectrum Disorders Mental Disorders ; 0.382 0.828
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.382 0.828
CCHS WITH HIRSCHSPRUNG DISEASE Respiratory Tract Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) N/A 0.382 0.828
Bulimia Nervosa Mental Disorders ; 0.382 0.828
Deletion 11p13 Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Nonepileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Bilateral Deafness Otorhinolaryngologic Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.382 0.828
Astrocytosis Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Convulsions Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Deaf Mutism Otorhinolaryngologic Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Epileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Myoclonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
Heroin Smoking Chemically-Induced Disorders ; 0.382 0.828
Generalized Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.382 0.828
NO RESULT FOUND
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